title: A novel exon 3 mutation in a Tunisian patient with Lafora's disease.
abstract: We report a Tunisian patient born from consanguineous marriage affected with progressive myoclonus epilepsy and cognitive decline, consistent with the diagnosis of Lafora disease. Genetic analysis showed a novel c.659 T>A mutation on exon 3 of the EPM2A gene, converting a leucine to a glutamine residue at amino acid position 220 (p.Leu220Gln), in the dual-specificity phosphatase domain.
authors.affiliation: Neurological Department, Charles Nicolle Hospital, Boulevard du 9 Avril, Tunis 1006, Tunisia. helamrabet@yahoo.com
authors.forename: H Mrabet
authors.initials: HM
authors.lastname: Khiari
authors.forename: G
authors.initials: G
authors.lastname: Lesca
authors.forename: A
authors.initials: A
authors.lastname: Malafosse
authors.forename: A
authors.initials: A
authors.lastname: Mrabet
mesh_terms: D000293:Adolescent; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D020192:Lafora Disease / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics*; D014416:Tunisia
chemical_list: D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human